Detalhe da pesquisa
1.
Head-to-head trial of pegunigalsidase alfa versus agalsidase beta in patients with Fabry disease and deteriorating renal function: results from the 2-year randomised phase III BALANCE study.
J Med Genet
; 2023 Nov 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37940383
2.
Phenotypic Expression and Outcomes in Patients with the p.Arg301Gln GLA Variant in Anderson-Fabry Disease.
Int J Mol Sci
; 25(8)2024 Apr 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-38673884
3.
Systems analyses of the Fabry kidney transcriptome and its response to enzyme replacement therapy identified and cross-validated enzyme replacement therapy-resistant targets amenable to drug repurposing.
Kidney Int
; 104(4): 803-819, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37419447
4.
An expert consensus on the recommendations for the use of biomarkers in Fabry disease.
Mol Genet Metab
; 139(2): 107585, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37207471
5.
Screening for health-related quality of life and its determinants in Fabry disease: A cross-sectional multicenter study.
Mol Genet Metab
; 140(3): 107692, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37703724
6.
Lyso-Gb3 associates with adverse long-term outcome in patients with Fabry disease.
J Med Genet
; 59(3): 287-293, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33495303
7.
Circular RNA-based biomarkers in blood of patients with Fabry disease and related phenotypes.
J Med Genet
; 59(3): 279-286, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33547137
8.
Agalsidase-ß should be proposed as first line therapy in classic male Fabry patients with undetectable α-galactosidase A activity.
Mol Genet Metab
; 137(1-2): 173-178, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36087505
9.
Rapid, proteomic urine assay for monitoring progressive organ disease in Fabry disease.
J Med Genet
; 57(1): 38-47, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31519711
10.
Fabry disease genotype, phenotype, and migalastat amenability: Insights from a national cohort.
J Inherit Metab Dis
; 43(2): 326-333, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31449323
11.
Obstructive sleep apnea and quality of life in Fabry disease: a prospective parallel cohort study.
Sleep Breath
; 24(1): 95-101, 2020 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-30937718
12.
External Validation of the MEESSI Acute Heart Failure Risk Score: A Cohort Study.
Ann Intern Med
; 170(4): 248-256, 2019 02 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-30690646
13.
Clinical Utility of Procalcitonin in the Diagnosis of Pneumonia.
Clin Chem
; 65(12): 1532-1542, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31615771
14.
Dose-Dependent Effect of Enzyme Replacement Therapy on Neutralizing Antidrug Antibody Titers and Clinical Outcome in Patients with Fabry Disease.
J Am Soc Nephrol
; 29(12): 2879-2889, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30385651
15.
Genotype, phenotype and disease severity reflected by serum LysoGb3 levels in patients with Fabry disease.
Mol Genet Metab
; 123(2): 148-153, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28728877
16.
European expert consensus statement on therapeutic goals in Fabry disease.
Mol Genet Metab
; 124(3): 189-203, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30017653
17.
ASSESSMENT OF DRUSEN AND OTHER RETINAL DEGENERATIVE CHANGES IN PATIENTS WITH HEREDITARY HEMOCHROMATOSIS.
Retina
; 38(3): 594-599, 2018 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-28291154
18.
Evaluation of the new restandardized Abbott Architect 25-OH Vitamin D assay in vitamin D-insufficient and vitamin D-supplemented individuals.
J Clin Lab Anal
; 32(4): e22328, 2018 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-28926129
19.
[The basics of lysosomal storage diseases]. / Die Grundlagen der lysosomalen Speicherkrankheiten.
Ther Umsch
; 75(4): 199-207, 2018 Nov.
Artigo
em Alemão
| MEDLINE | ID: mdl-30468118
20.
[Fabry disease - the profile of an orphan disease]. / Morbus Fabry das Porträt einer seltenen Erkrankung.
Ther Umsch
; 75(4): 217-224, 2018 Nov.
Artigo
em Alemão
| MEDLINE | ID: mdl-30468120